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Fusion gene ID: 20724 |
FusionGeneSummary for MAMLD1_MMD2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MAMLD1_MMD2 | Fusion gene ID: 20724 | Hgene | Tgene | Gene symbol | MAMLD1 | MMD2 | Gene ID | 10046 | 221938 |
| Gene name | mastermind like domain containing 1 | monocyte to macrophage differentiation associated 2 | |
| Synonyms | CG1|CXorf6|F18|HYSP2 | PAQR10 | |
| Cytomap | Xq28 | 7p22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | mastermind-like domain-containing protein 1 | monocyte to macrophage differentiation factor 2monocyte-to-macrophage differentiation-associated protein 2progestin and adipoQ receptor family member 10progestin and adipoQ receptor family member X | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | Q13495 | Q8IY49 | |
| Ensembl transtripts involved in fusion gene | ENST00000468306, ENST00000370401, ENST00000432680, ENST00000262858, ENST00000426613, ENST00000455522, | ENST00000406755, ENST00000404774, ENST00000401401, | |
| Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 2 X 2 X 2=8 |
| # samples | 3 | 2 | |
| ** MAII score | log2(3/4*10)=2.90689059560852 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: MAMLD1 [Title/Abstract] AND MMD2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Tgene | MMD2 | GO:0032880 | regulation of protein localization | 21968647 |
| Tgene | MMD2 | GO:0045666 | positive regulation of neuron differentiation | 21968647 |
| Tgene | MMD2 | GO:0045860 | positive regulation of protein kinase activity | 21968647 |
| Tgene | MMD2 | GO:0046579 | positive regulation of Ras protein signal transduction | 21968647 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | BE703964 | MAMLD1 | chrX | 149635086 | + | MMD2 | chr7 | 4945740 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| intron-3UTR | ENST00000468306 | ENST00000406755 | MAMLD1 | chrX | 149635086 | + | MMD2 | chr7 | 4945740 | - |
| intron-3UTR | ENST00000468306 | ENST00000404774 | MAMLD1 | chrX | 149635086 | + | MMD2 | chr7 | 4945740 | - |
| intron-3UTR | ENST00000468306 | ENST00000401401 | MAMLD1 | chrX | 149635086 | + | MMD2 | chr7 | 4945740 | - |
| intron-3UTR | ENST00000370401 | ENST00000406755 | MAMLD1 | chrX | 149635086 | + | MMD2 | chr7 | 4945740 | - |
| intron-3UTR | ENST00000370401 | ENST00000404774 | MAMLD1 | chrX | 149635086 | + | MMD2 | chr7 | 4945740 | - |
| intron-3UTR | ENST00000370401 | ENST00000401401 | MAMLD1 | chrX | 149635086 | + | MMD2 | chr7 | 4945740 | - |
| intron-3UTR | ENST00000432680 | ENST00000406755 | MAMLD1 | chrX | 149635086 | + | MMD2 | chr7 | 4945740 | - |
| intron-3UTR | ENST00000432680 | ENST00000404774 | MAMLD1 | chrX | 149635086 | + | MMD2 | chr7 | 4945740 | - |
| intron-3UTR | ENST00000432680 | ENST00000401401 | MAMLD1 | chrX | 149635086 | + | MMD2 | chr7 | 4945740 | - |
| intron-3UTR | ENST00000262858 | ENST00000406755 | MAMLD1 | chrX | 149635086 | + | MMD2 | chr7 | 4945740 | - |
| intron-3UTR | ENST00000262858 | ENST00000404774 | MAMLD1 | chrX | 149635086 | + | MMD2 | chr7 | 4945740 | - |
| intron-3UTR | ENST00000262858 | ENST00000401401 | MAMLD1 | chrX | 149635086 | + | MMD2 | chr7 | 4945740 | - |
| intron-3UTR | ENST00000426613 | ENST00000406755 | MAMLD1 | chrX | 149635086 | + | MMD2 | chr7 | 4945740 | - |
| intron-3UTR | ENST00000426613 | ENST00000404774 | MAMLD1 | chrX | 149635086 | + | MMD2 | chr7 | 4945740 | - |
| intron-3UTR | ENST00000426613 | ENST00000401401 | MAMLD1 | chrX | 149635086 | + | MMD2 | chr7 | 4945740 | - |
| intron-3UTR | ENST00000455522 | ENST00000406755 | MAMLD1 | chrX | 149635086 | + | MMD2 | chr7 | 4945740 | - |
| intron-3UTR | ENST00000455522 | ENST00000404774 | MAMLD1 | chrX | 149635086 | + | MMD2 | chr7 | 4945740 | - |
| intron-3UTR | ENST00000455522 | ENST00000401401 | MAMLD1 | chrX | 149635086 | + | MMD2 | chr7 | 4945740 | - |
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FusionProtFeatures for MAMLD1_MMD2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MAMLD1 | MMD2 |